Gene

obsl1a

ID
ZDB-GENE-060503-649
Name
obscurin like cytoskeletal adaptor 1a
Symbol
obsl1a Nomenclature History
Previous Names
  • OBSL1.1 (1)
  • obsl1
  • si:dkey-91f15.5
Type
protein_coding_gene
Location
Chr: 6 Mapping Details/Browsers
Description
Is expressed in immature eye and somite. Human ortholog(s) of this gene implicated in 3-M syndrome. Orthologous to human OBSL1 (obscurin like cytoskeletal adaptor 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
2 figures from Boyle Anderson et al., 2018
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With obsl1a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
3-M syndrome Alliance 3-M syndrome 2 612921
Associated With obsl1a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR003598 Immunoglobulin subtype 2
Domain IPR003599 Immunoglobulin subtype
Domain IPR003961 Fibronectin type III
Domain IPR007110 Immunoglobulin-like domain
Domain IPR013098 Immunoglobulin I-set
Homologous_superfamily IPR013783 Immunoglobulin-like fold
Homologous_superfamily IPR036116 Fibronectin type III superfamily
Homologous_superfamily IPR036179 Immunoglobulin-like domain superfamily
Domain Details Per Protein
Protein Length Fibronectin type III Fibronectin type III superfamily Immunoglobulin I-set Immunoglobulin-like domain Immunoglobulin-like domain superfamily Immunoglobulin-like fold Immunoglobulin subtype Immunoglobulin subtype 2
UniProtKB:M9MMC0 2006
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations